Research Output per year
Fingerprint Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 6 Similar Profiles
Mutation
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Genes
Medicine & Life Sciences
CHARGE Syndrome
Medicine & Life Sciences
Intellectual Disability
Medicine & Life Sciences
Missense Mutation
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Newborn Infant
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1991 2019
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.Research output: Contribution to journal › Article
Open Access
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)
Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : Journal of Human Genetics.Research output: Contribution to journal › Comment/debate
Open Access
Periventricular Nodular Heterotopia
Medical Genetics
Cleft Palate
Missense Mutation
Mutation
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome
Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism
Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion
Hosaka, S., Kobayashi, C., Saito, H., Imai-Saito, A., Suzuki, R., Iwabuchi, A., Kato, Y., Jimbo, T., Watanabe, N., Onodera, M., Imadome, K. I., Masumoto, K., Nanmoku, T., Fukushima, T., Kosaki, K., Sumazaki, R. & Takada, H., 2019 Jan 1, In : Pediatric Transplantation. e13424.Research output: Contribution to journal › Article
Lymphocyte Transfusion
DiGeorge Syndrome
Epstein-Barr Virus Infections
Blood Transfusion
Immunity
1
Citation
(Scopus)
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
Mishima, H., Suzuki, H., Doi, M., Miyazaki, M., Watanabe, S., Matsumoto, T., Morifuji, K., Moriuchi, H., Yoshiura, K. I., Kondoh, T. & Kosaki, K., 2019 Aug 1, In : Journal of Human Genetics. 64, 8, p. 789-794 6 p.Research output: Contribution to journal › Article
Japan
Down Syndrome
Learning
Newborn Infant